Principle of Inheritance and VariationMediumBloom L2

Question

Which of the following most appropriately describes haemophilia? [NEET 2016]

Options

A.Recessive gene disorder
B.X-linked recessive gene disorder
C.Chromosomal disorder
D.Dominant gene disorder

Solution

Sol.(b) [Key Concept: Haemophilia — X-linked Recessive Disorder] Haemophilia is MOST APPROPRIATELY described as an X-LINKED RECESSIVE GENE DISORDER. Haemophilia A (Factor VIII deficiency) and Haemophilia B (Factor IX deficiency, Christmas disease) are both caused by recessive mutations in genes on the X chromosome. Males (XY) with one mutant X allele are affected; females (XX) require two mutant X alleles to be affected (very rare). Carriers (X^H X^h females) are phenotypically normal. It is a genetic (single gene) disorder, not a chromosomal disorder.

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